RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Affiliations

• ¹ UCL Queen Square Institute of Neurology, University College London, London, UK.
• ² Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
• ³ Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
• ⁴ Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
• ⁵ Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
• ⁶ Genetic Center of Khorasan Razavi, Mashhad, Iran.
• ⁷ Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
• ⁸ Clinic for Special Children, Strasburg, PA, USA.
• ⁹ Community Health Clinic, Topeka, IN, USA.
• ¹⁰ Departments of Neurology and Pediatrics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
• ¹¹ National Institute of Neuromotor System, Cairo, Egypt.
• ¹² Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
• ¹³ National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan.
• ¹⁴ Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
• ¹⁵ Medical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
• ¹⁶ GeneDx, Gaithersburg, Maryland, USA.
• ¹⁷ Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
• ¹⁸ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
• ¹⁹ Department of Pediatrics, University of Wisconsin Hospitals and Clinics, Madison, WI, USA.
• ²⁰ Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.